A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818998



Internal ID16407839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20060048..20071146hg38UCSC Ensembl
Innerchr14:20528207..20539305hg19UCSC Ensembl
Innerchr14:19598047..19609145hg18UCSC Ensembl
Innerchr14:19598047..19609145hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3811099
hg1911099
hg1811099
hg1711099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416793, nssv1416792
SamplesNA19159, NA19161
Known GenesOR4L1
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818998
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer